Table 6. [Rubinstein-Taybi Syndrome: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth	Monitor weight & linear growth w/RSTS growth charts.	Frequently during 1st yr of life & at regular checkups. If growth differs from expected, assess for growth hormone deficiency.
Neurologic	Monitor those w/seizures as clinically indicated.	At each visit
Assess for new manifestations such as seizures, changes in tone, & movement disorders.
Development	Monitor developmental progress & educational needs.
Neurobehavioral/ Psychiatric	Behavioral assessment for anxiety, ADHD, ASD, aggression, & self-injury
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills Eval of gait Bone density study if recurrent fractures
Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake
Gastrointestinal	Monitor for constipation.
Respiratory	Monitor for evidence of aspiration, respiratory insufficiency, & sleep apnea.
Ophthalmologic involvement	Ophthalmologic eval	Annually or as necessary
Low vision services	Per treating clinicians
Hearing loss	Audiologic eval	Annually (more frequently if person has history of recurrent otitis media)
Cardiovascular	Cardiac eval	At diagnosis & then per cardiologist
Genitourinary	Renal & urologic eval	At diagnosis & then monitor for symptoms at each visit
Dental anomalies	Dental & orthodontic eval	Beginning at age 1 yr; continue every 6 mos or per dentist/orthodontist
Endocrine	Eval for hypoglycemia	At each visit
Immunologic	Vaccinations per general population If recurrent infections, baseline immune workup	At each visit
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

System/Concern

Evaluation

Frequency

Growth

Monitor weight & linear growth w/RSTS growth charts.

Frequently during 1st yr of life & at regular checkups.
If growth differs from expected, assess for growth hormone deficiency.

Neurologic

Monitor those w/seizures as clinically indicated.

At each visit

Assess for new manifestations such as seizures, changes in tone, & movement disorders.

Development

Monitor developmental progress & educational needs.

Neurobehavioral/
Psychiatric

Behavioral assessment for anxiety, ADHD, ASD, aggression, & self-injury

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, self-help skills
Eval of gait
Bone density study if recurrent fractures

Feeding

Measurement of growth parameters
Eval of nutritional status & safety of oral intake

Gastrointestinal

Monitor for constipation.

Respiratory

Monitor for evidence of aspiration, respiratory insufficiency, & sleep apnea.

Ophthalmologic involvement

Ophthalmologic eval

Annually or as necessary

Low vision services

Per treating clinicians

Hearing loss

Audiologic eval

Annually (more frequently if person has history of recurrent otitis media)

Cardiovascular

Cardiac eval

At diagnosis & then per cardiologist

Genitourinary

Renal & urologic eval

At diagnosis & then monitor for symptoms at each visit

Dental anomalies

Dental & orthodontic eval

Beginning at age 1 yr; continue every 6 mos or per dentist/orthodontist

Endocrine

Eval for hypoglycemia

At each visit

Immunologic

Vaccinations per general population
If recurrent infections, baseline immune workup

At each visit

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

From: Rubinstein-Taybi Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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